Varaico: Literature-Extracted Genetic Variants

Gene:TMEM126B
Variant:p.N134delFs

TMEM126B

41 papers

RefSeq Summary

This gene encodes a mitochondrial transmembrane protein which is a component of the mitochondrial complex I assembly complex. The encoded protein serves as an assembly factor that is required for form...

Pfam Domains

TMEM126aa 51–229UCSCTransmembrane protein 126

Gene Aliases

HGNC Name

transmembrane protein 126B

HGNC Alias Symbol

HT007

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_018480.7
p.N134delFs
c.401delA
Surrounding Variants
2 papers
NM_018480.7
p.N134fs
c.400_401fs
1 paper
NM_001256546.2
p.D103Splc
c.308-7T>A
1 paper
NM_018480.7
p.I147T
c.440T>C
1 paper
NM_001193537.3
p.V133I
c.397G>A
1 paper
NM_018480.7
p.R166L
c.497G>T
1 paper
NM_018480.7
p.A168V
c.503C>T
1 paper
NM_018480.7
p.T188A
c.562A>G
2 papers
NM_018480.7
p.A198V
c.593C>T
1 paper
NM_018480.7
p.A198A
c.594G>A
1 paper
NM_018480.7
p.G212D
c.635G>A
18 papers
NM_018480.7
p.G212V
c.635G>T
1 paper
NM_018480.7
p.D133Splc
c.397+1G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."